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NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) AND Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003162523.1

Allele description [Variation Report for NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)]

NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
Other names:
p.Y386C:TAT>TGT; NM_000277.3(PAH):c.1157A>G; p.Y386C
HGVS:
  • NC_000012.12:g.102843688T>C
  • NG_008690.2:g.119723A>G
  • NM_000277.3:c.1157A>GMANE SELECT
  • NM_001354304.2:c.1157A>G
  • NP_000268.1:p.Tyr386Cys
  • NP_001341233.1:p.Tyr386Cys
  • NC_000012.11:g.103237466T>C
  • NM_000277.1:c.1157A>G
  • P00439:p.Tyr386Cys
Protein change:
Y386C
Links:
UniProtKB: P00439#VAR_001023; dbSNP: rs62516141
NCBI 1000 Genomes Browser:
rs62516141
Molecular consequence:
  • NM_000277.3:c.1157A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.1157A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (NEDSPLB)
Identifiers:
MONDO: MONDO:0014679; MedGen: C4225295; OMIM: 616531

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003915641Undiagnosed Diseases Network, NIH
no assertion criteria provided
Pathogenic
(Oct 27, 2022) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH, SCV003915641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedBloodnot provided1not providednot providednot provided

Last Updated: Jun 17, 2024